Congenital Diaphragmatic Hernia

Absent left hemidiaphragm, arhinencephaly, and cardiac malformations.

“…There have been several reports of diaphragmatic gaps in sibs (Makela, 1916;Mertins, 1952;Phillip and Skelton, 1952;Butler and Claireaux, 1962;Powell and Johnstone, 1962;Welch and Cooke, 1962;Passarge et al, 1968;ten Kate and Anders, 1970;Feingold, 1971;Jensen and Altrogge, 1971;Daentl and Passarge, 1972;Harberg et al, 1976). Almost all of these were on the left side.…”

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

“…[Butler and Claireaux, 1962; Welch and Cooke, 1962; Scott and Patterson, 1966; Passarge et al, 1968; ten Kate and Anders, 1970; Feingold, 1971; Harberg et al, 1976; Thomas et al, 1976; Crane, 1979; David et al, 1979; Pollack and Hall, 1979; Arad et al, 1980; Wolff, 1980; Gencik et al, 1982; Norio et al, 1984; Czeizel and Kovacs, 1985; Lipson and Williams, 1985; Toriello et al, 1985; Bocian et al, 1986; Toriello et al, 1986; Farag et al, 1989; Hitch et al, 1989; Carmi et al, 1990; Frey et al, 1991; Sripathi and Beasley, 1992; Narayan et al, 1993; Farag et al, 1994; Gibbs et al, 1997; Mitchell et al, 1997; Kufeji and Crabbe, 1999; Manouvrier‐Hanu et al, 2000]. As part of our own research over the last 5 years, we ascertained more than two dozen multiplex families in whom the diagnosis of a syndrome was not established.…”

Genetic aspects of human congenital diaphragmatic hernia

“…Although the vast majority of individuals have a negative family history, sibling recurrences of isolated CDH are documented (3,(32)(33)(34)(35)(36)(37)(38)(39). However, it is not completely possible to exclude the presence of CDH1 in some of these cases due to limited physical examination and/or diagnostic workup.…”